1:6027365-6027365 C > T

Classification

Category 4 curation
CMH MAF 36 / 14969 samples (0.24%)
36 het., 0 hom. (100%)
36 / 29938 total alleles (0.12%)

gene: NPHP4 synonym(s): POC10, SLSN4, NPHP4, ENSG00000131697

OMIM
OMIM:607215: NPHP4 (Autosomal recessive inheritance)
OMIM:606966: Nephronophthisis 4
OMIM:606996: Senior-Loken syndrome 4

NM_015102.3 [CDS]
hgvs_c: NM_015102.3:c.511G>A
reference AA: A
variant AA: T
reference codon: Gca
variant codon: Aca
cDNA pos: 779
CDS pos: 511
translation impact: non_synonymous
protein sequence: NP_055917.1
AA pos: 171
hgvs_p: NP_055917.1:p.Ala171Thr
blosum: 0
SIFT: tolerated (0.05)
PolyPhen2: benign (0.103)

rs113765431
GMAF = 0.004593
TOPMED_MAF = 0.00367928134556574

235474
clinvar_significance = Benign_Likely_benign

EVS
EVS MAF (European American/African American/All) = 0.000000,0.011155,0.003627

ExAC African, (108 / 4888), 2.21%
gnomAD African, (297 / 22038), 1.35% curated_classification = 4